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Isolation of human cDNA clones of ski and the ski-related gene, sno.

ABSTRACT: cDNA clones of ski and the ski-related gene, sno, were obtained by screening human cDNA libraries. The predicted open reading frame of h-ski could encode a protein of 728 amino acid residues. The h-ski protein is highly homologous with the v-ski protein. The overall homology between h-ski and v-ski is 91% at the amino acid level. DNA sequencing analysis revealed two types of cDNA clones from the sno (ski-related novel gene) gene, possibly due to alternative splicing. The first type, named snoN (non Alu-containing), encoded a protein of 684 amino acid residues. The second type, named snoA (Alu-containing), encoded a protein of 415 amino acid residues. The first 366 amino acid residues of snoN and snoA are the same, but subsequent amino acids show divergence. Several transcripts of h-ski (6.0, 4.7, 3.8, 3.0, 2.1 and 1.8 kb) were detected. The mRNAs of h-sno were 6.2, 4.4 and 3.2kb.

SUBMITTER: Nomura N

PROVIDER: S-EPMC318172 | biostudies-other | 1989 Jul

REPOSITORIES: biostudies-other

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Isolation of human cDNA clones of ski and the ski-related gene, sno.

Nomura N N Sasamoto S S Ishii S S Date T T Matsui M M Ishizaki R R

Nucleic acids research 19890701 14

cDNA clones of ski and the ski-related gene, sno, were obtained by screening human cDNA libraries. The predicted open reading frame of h-ski could encode a protein of 728 amino acid residues. The h-ski protein is highly homologous with the v-ski protein. The overall homology between h-ski and v-ski is 91% at the amino acid level. DNA sequencing analysis revealed two types of cDNA clones from the sno (ski-related novel gene) gene, possibly due to alternative splicing. The first type, named snoN ( ...[more]

PMID: 2762147

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Project description:The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.

Dataset Information

Isolation of human cDNA clones of ski and the ski-related gene, sno.

Publications

Isolation of human cDNA clones of ski and the ski-related gene, sno.

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